De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Author:

Chemin Jean12,Siquier-Pernet Karine34,Nicouleau Michaël34,Barcia Giulia34,Ahmad Ali12,Medina-Cano Daniel34,Hanein Sylvain5,Altin Nami34,Hubert Laurence5,Bole-Feysot Christine6,Fourage Cécile78,Nitschké Patrick7,Thevenon Julien9,Rio Marlène48,Blanc Pierre48,vidal Céline5,Bahi-Buisson Nadia31011,Desguerre Isabelle311,Munnich Arnold38,Lyonnet Stanislas3810,Boddaert Nathalie31213,Fassi Emily14,Shinawi Marwan14,Zimmerman Holly15,Amiel Jeanne3810,Faivre Laurence9,Colleaux Laurence34,Lory Philippe12,Cantagrel Vincent34

Affiliation:

1. IGF, CNRS, INSERM, University of Montpellier, Montpellier, France

2. LabEx ‘Ion Channel Science and Therapeutics’, Montpellier, France

3. Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France

4. Laboratory of developmental brain disorders, INSERM UMR, Paris, France

5. Translational Genetics, INSERM UMR, Imagine Institute, Paris, France

6. Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Genomic Core Facility, Paris, France

7. Paris-Descartes Sorbonne Paris-Cité University, Imagine Institute, Bioinformatics Core Facility, Paris, France

8. Service de Génétique, Necker Enfants Malades University Hospital, APHP, Paris, France

9. Centre de Génétique et Centre de Référence “Anomalies du Développement et Syndromes Malformatifs”, Hôpital d’Enfants, CHU Dijon, Dijon, France

10. Laboratory of embryology and genetics of congenital malformations, INSERM UMR1163, Paris, France

11. Service de neurologie pédiatrique, Necker Enfants Malades University Hospital, APHP, Paris, France

12. Pediatric Radiology Department, Necker Enfants Malades University Hospital, APHP, Paris, France

13. Image - Institut Imagine, INSERM UMR1163 and INSERM U1000, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris, France

14. Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA

15. Division of Genetics, Department of Pediatrics, University of Mississippi Medical Center, 2500N State St, Jackson, MS, USA

Funder

FRM

l’Agence Nationale de la Recherche

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Reference64 articles.

1. Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients;Al-Maawali;J Child Neurol,2012

2. Osteogenesis imperfecta type I caused by COL1A1 deletions;Bardai;Calcif Tissue Int,2016

3. A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects;Beck;Neurogenetics,2016

4. Hallmarks of the channelopathies associated with L-type calcium channels: a focus on the Timothy mutations in Ca(v)1.2 channels;Bidaud;Biochimie,2011

5. Rebound excitation triggered by synaptic inhibition in cerebellar nuclear neurons is suppressed by selective T-type calcium channel block;Boehme;J Neurophysiol,2011

Cited by 74 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3